{"id":"W2086683152","doi":"10.1002/ajmg.10501","title":"Frameshift mutation in the cartilage‐derived morphogenetic protein 1 (<i>CDMP1</i>) gene and severe acromesomelic chondrodysplasia resembling Grebe‐type chondrodysplasia","year":2002,"lang":"en","type":"review","venue":"American Journal of Medical Genetics","topic":"Cancer-related gene regulation","field":"Biochemistry, Genetics and Molecular Biology","cited_by":64,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; Fogarty International Center","keywords":"Frameshift mutation; Biology; Mutation; Genetics; Craniofacial; Gene; Cartilage; Endocrinology; Internal medicine; Anatomy; Medicine","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.001168402,0.0006002772,0.001414316,0.0003660366,0.000107399,0.00009374956,0.001024841,0.0007592109,0.00005495548],"category_scores_gemma":[0.000567706,0.000454434,0.0003728564,0.001032319,0.0005658776,0.000010489,0.0001946955,0.001226163,0.00001076665],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000107998,"about_ca_system_score_gemma":0.0009150975,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001929559,"about_ca_topic_score_gemma":0.00005281804,"domain_scores_codex":[0.9948761,0.0009253469,0.001530253,0.0006165386,0.00148624,0.0005655082],"domain_scores_gemma":[0.9970611,0.0001297504,0.001510046,0.0006620236,0.0002451952,0.0003919138],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00008661125,0.0001212021,0.00004395772,0.0008656133,0.0002897345,0.0002738943,0.000387013,0.0004242218,0.005198003,0.000002217986,0.0007750968,0.9915324],"study_design_scores_gemma":[0.00259013,0.004544929,0.0004030254,0.007626283,0.001550209,0.01486962,0.0005633018,0.0004131099,0.002564818,0.00004937011,0.9632866,0.001538634],"study_design_candidate":"design_other","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.2627278,0.7358375,0.0001751715,0.0003144347,0.0002869954,0.0006192005,0.00001697694,0.000005539184,0.00001644987],"genre_scores_gemma":[0.03355157,0.9634466,0.001485913,0.0001786953,0.001027103,0.00003752207,0.00009573705,0.0001079404,0.00006894315],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.9899938,"threshold_uncertainty_score":0.9997907,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01996757423110693,"score_gpt":0.3060617686725966,"score_spread":0.2860941944414896,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}